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NM_001243133.2(NLRP3):c.2047C>T (p.His683Tyr) AND Hearing loss, autosomal dominant 34, with or without inflammation

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 23, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001808978.1

Allele description [Variation Report for NM_001243133.2(NLRP3):c.2047C>T (p.His683Tyr)]

NM_001243133.2(NLRP3):c.2047C>T (p.His683Tyr)

Gene:
NLRP3:NLR family pyrin domain containing 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q44
Genomic location:
Preferred name:
NM_001243133.2(NLRP3):c.2047C>T (p.His683Tyr)
HGVS:
  • NC_000001.11:g.247425496C>T
  • NG_007509.2:g.14324C>T
  • NM_001079821.3:c.2047C>T
  • NM_001127461.3:c.2047C>T
  • NM_001127462.3:c.2047C>T
  • NM_001243133.2:c.2047C>TMANE SELECT
  • NM_004895.5:c.2053C>T
  • NM_183395.3:c.2047C>T
  • NP_001073289.2:p.His683Tyr
  • NP_001120933.2:p.His683Tyr
  • NP_001120934.2:p.His683Tyr
  • NP_001230062.1:p.His683Tyr
  • NP_004886.3:p.His685Tyr
  • NP_899632.2:p.His683Tyr
  • LRG_197:g.14324C>T
  • NC_000001.10:g.247588798C>T
  • NM_001079821.2:c.2053C>T
Protein change:
H683Y
Links:
dbSNP: rs2103113675
NCBI 1000 Genomes Browser:
rs2103113675
Molecular consequence:
  • NM_001079821.3:c.2047C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127461.3:c.2047C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127462.3:c.2047C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001243133.2:c.2047C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004895.5:c.2053C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183395.3:c.2047C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hearing loss, autosomal dominant 34, with or without inflammation
Synonyms:
Deafness, autosomal dominant 34, with or without inflammation
Identifiers:
MONDO: MONDO:0033261; MedGen: C4521680; OMIM: 617772

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002059286Centogene AG - the Rare Disease Company
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 23, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Centogene AG - the Rare Disease Company, SCV002059286.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023